A large proportion of patients diagnosed with Bohring-Opitz Syndrome have a mutation in the ASXL1 gene. This case is different. Although the three-year-old girl from Malaysia showed different characteristics or Bohring-Opitz Syndrome, genetic analysis showed a 46xx – Bohring Opitz Syndrome overlapped with C syndrome.
» Read here the Case Report: Bohring-Opitz Syndrome – a case of rare genetic disorder by Nithiya Visayaragawan, Narentharen Selvarajah, Hema Apparau, Valuyeetham Kamaru Ambu, of the Tuanku Ja’afar Hospital, Seremban.
Published by Sünne
German living in The Netherlands together with my husband and mother of four, writing about the rare disease Bohring-Opitz Syndrome (BOS) of my first born son at bohring-opitz.org and founder of the BOS support group on Facebook.
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